Small deletions but not methylation underlie CDKN2A/P16 loss of expression in conventional osteosarcoma

Genes Chromosomes and Cancer

Volumn 49, Issue 12, 2010, Pages 1095-1103

  Mohseny, Alexander B ^a   Tieken, Chris ^a   Van der Velden, Pieter A ^a   Szuhai, Karoly ^a   De Andrea, Carlos ^a   Hogendoorn, Pancras C W ^a   Cleton Jansen, Anne Marie ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIN DEPENDENT KINASE INHIBITOR 2A; DNA;

ARTICLE; BONE TUMOR; DNA METHYLATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE EXPRESSION; GENETICS; HUMAN; ISOLATION AND PURIFICATION; METABOLISM; NUCLEOTIDE SEQUENCE; OSTEOSARCOMA; PROGNOSIS; PROMOTER REGION; TUMOR SUPPRESSOR GENE;

BASE SEQUENCE; BONE NEOPLASMS; CYCLIN-DEPENDENT KINASE INHIBITOR P16; DNA METHYLATION; DNA, NEOPLASM; GENE EXPRESSION; GENES, P16; GENES, TUMOR SUPPRESSOR; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; OSTEOSARCOMA; PROGNOSIS; PROMOTER REGIONS, GENETIC; SEQUENCE DELETION;

EID: 79952199693     PISSN: 10452257     EISSN: 10982264     Source Type: Journal    
DOI: 10.1002/gcc.20817     Document Type: Article

References (44)

1. Bacci G, Briccoli A, Ferrari S, Longhi A, Mercuri M, Capanna R, Donati D, Lari S, Forni C, DePaolis M. 2001. Neoadjuvant chemotherapy for osteosarcoma of the extremity: Long-term results of the Rizzoli's 4th protocol. Eur J Cancer 37:2030-2039.
2. Badal V, Menendez S, Coomber D, Lane DP. 2008. Regulation of the p14ARF promoter by DNA methylation. Cell Cycle 7:112- 119.
3. Benassi MS, Molendini L, Gamberi G, Magagnoli G, Ragazzini P, Gobbi GA, Sangiorgi L, Pazzaglia L, Asp J, Brantsing C, Picci P. 2001. Involvement of INK4A gene products in the pathogenesis and development of human osteosarcoma. Cancer 92: 3062-3067.
4. Buddingh' EP, Anninga JK, Versteegh MI, Taminiau AH, Egeler RM, van Rijswijk CS, Hogendoorn PC, Lankester AC, Gelderblom H. 2010. Prognostic factors in pulmonary metastasized high-grade osteosarcoma. Pediatr Blood Cancer 54:216-221.
5. Cleton-Jansen AM, Buerger H, Hogendoorn PCW. 2005. Central high-grade osteosarcoma of bone: Diagnostic and genetic considerations. Curr Diagn Pathol 11:390-399.
6. Ferrari S, Palmerini E. 2007. Adjuvant and neoadjuvant combination chemotherapy for osteogenic sarcoma. Curr Opin Oncol 19:341-346.
7. Goldstein AM, Chan M, Harland M, Gillanders EM, Hayward NK, Avril MF, Azizi E, Bianchi-Scarra G, Bishop DT, Bressacde PB, Bruno W, Calista D, Cannon Albright LA, Demenais F, Elder DE, Ghiorzo P, Gruis NA, Hansson J, Hogg D, Holland EA, Kanetsky PA, Kefford RF, Landi MT, Lang J, Leachman SA, Mackie RM, Magnusson V, Mann GJ, Niendorf K, Newton BJ, Palmer JM, Puig S, Puig-Butille JA, de Snoo FA, Stark M, Tsao H, Tucker MA, Whitaker L, Yakobson E. 2006. High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL. Cancer Res 66:9818-9828.
8. Goldstein AM, Chan M, Harland M, Hayward NK, Demenais F, Bishop DT, Azizi E, Bergman W, Bianchi-Scarra G, Bruno W, Calista D, Albright LA, Chaudru V, Chompret A, Cuellar F, Elder DE, Ghiorzo P, Gillanders EM, Gruis NA, Hansson J, Hogg D, Holland EA, Kanetsky PA, Kefford RF, Landi MT, Lang J, Leachman SA, Mackie RM, Magnusson V, Mann GJ, Bishop JN, Palmer JM, Puig S, Puig-Butille JA, Stark M, Tsao H, Tucker MA, Whitaker L, Yakobson E. 2007. Features associated with germline CDKN2A mutations: A GenoMEL study of melanoma-prone families from three continents. J Med Genet 44:99-106.
9. Gorlick R, Anderson P, Andrulis I, Arndt C, Beardsley GP, Bernstein M, Bridge J, Cheung NK, Dome JS, Ebb D, Gardner T, Gebhardt M, Grier H, Hansen M, Healey J, Helman L, Hock J, Houghton J, Houghton P, Huvos A, Khanna C, Kieran M, Kleinerman E, Ladanyi M, Lau C, Malkin D, Marina N, Meltzer P, Meyers P, Schofield D, Schwartz C, Smith MA, Toretsky J, Tsokos M, Wexler L, Wigginton J, Withrow S, Schoenfeldt M, Anderson B. 2003. Biology of childhood osteogenic sarcoma and potential targets for therapeutic development: Meeting summary. Clin Cancer Res 9:5442-5453.
10. Hameetman L, Szuhai K, Yavas A, Knijnenburg J, van Duin M, Van Dekken H, Taminiau AHM, Cleton-Jansen AM, Bovée JVMG, Hogendoorn PCW. 2007. The role of EXT1 in non hereditary osteochondroma: Identification of homozygous deletions. J Natl Cancer Inst 99:396-406.
11. Harada K, Toyooka S, Maitra A, Maruyama R, Toyooka KO, Timmons CF, Tomlinson GE, Mastrangelo D, Hay RJ, Minna JD, Gazdar AF. 2002. Aberrant promoter methylation and silencing of the RASSF1A gene in pediatric tumors and cell lines. Oncogene 21:4345-4349.
12. Harland M, Goldstein AM, Kukalizch K, Taylor C, Hogg D, Puig S, Badenas C, Gruis N, ter HJ, Bergman W, Hayward NK, Stark M, Tsao H, Tucker MA, Landi MT, Scarra GB, Ghiorzo P, Kanetsky PA, Elder D, Mann GJ, Holland EA, Bishop DT, Bishop JN. 2008. A comparison of CDKN2A mutation detection within the Melanoma Genetics Consortium (GenoMEL). Eur J Cancer 44:1269-1274.
13. Herman JG, Graff JR, Myohanen S, Nelkin BD, Baylin SB. 1996. Methylation-specific PCR: A novel PCR assay for methylation status of CpG islands. Proc Natl Acad Sci USA 93:9821-9826
14. Kanai Y, Ushijima S, Tsuda H, Sakamoto M, Hirohashi S. 2000. Aberrant DNA methylation precedes loss of heterozygosity on chromosome 16 in chronic hepatitis and liver cirrhosis. Cancer Lett 148:73-80.
15. Kansara M, Thomas DM. 2007. Molecular pathogenesis of osteosarcoma. DNA Cell Biol 26:1-18.
16. Krimpenfort P, Ijpenberg A, Song JY, van d, V, Nawijn M, Zevenhoven J, Berns A. 2007. p15Ink4b is a critical tumour suppressor in the absence of p16Ink4a. Nature 448:943-946.
17. Lewis IJ, Nooij MA, Whelan J, Sydes MR, Grimer R, Hogendoorn PC, Memon MA, Weeden S, Uscinska BM, Van Glabbeke M, Kirkpatrick A, Hauben EI, Craft AW, Taminiau AH. 2007. Improvement in histologic response but not survival in osteosarcoma patients treated with intensified chemotherapy: A randomized phase III trial of the European Osteosarcoma Intergroup. J Natl Cancer Inst 99:112-128.
18. Liu L, Zhang J, Bates S, Li JJ, Peehl DM, Rhim JS, Pfeifer GP. 2005. A methylation profile of in vitro immortalized human cell lines. Int J Oncol 26:275-285.
19. Lombaerts M, Middeldorp JW, van der Weide E, Philippo K, van Wezel T, Smit VT, Cornelisse CJ, Cleton-Jansen AM. 2004. Infiltrating leukocytes confound the detection of E-cadherin promoter methylation in tumors. Biochem Biophys Res Commun 319:697-704.
20. Lopez-Guerrero JA, Lopez-Gines C, Pellin A, Carda C, Llombart-Bosch A. 2004. Deregulation of the G1 to S-phase cell cycle checkpoint is involved in the pathogenesis of human osteosarcoma. Diagn Mol Pathol 13:81-91.
21. Lorente A, Mueller W, Urdangarin E, Lazcoz P, von DA, Castresana JS. 2008. Detection of methylation in promoter sequences by melting curve analysis-based semiquantitative real time PCR. BMC Cancer 8:61.
22. Maitra A, Roberts H, Weinberg AG, Geradts J. 2001. Loss of p16(INK4a) expression correlates with decreased survival in pediatric osteosarcomas. Int J Cancer 95:34-38.
23. Marcove RC, Mike V, Hajek JV, Levin AG, Hutter RV. 1970. Osteogenic sarcoma under the age of twenty-one. A review of one hundred and forty-five operative cases. J Bone Joint Surg Am 52:411-423.
24. Marina N, Gebhardt M, Teot L, Gorlick R. 2004. Biology and therapeutic advances for pediatric osteosarcoma. Oncologist 9: 422-441.
25. McDermott KM, Zhang J, Holst CR, Kozakiewicz BK, Singla V, Tlsty TD. 2006. p16(INK4a) prevents centrosome dysfunction and genomic instability in primary cells. PLoS Biol 4:3051-3065.
26. Miller CW, Aslo A, Campbell MJ, Kawamata N, Lampkin BC, Koeffler HP. 1996. Alterations of the p15, p16, and p18 genes in osteosarcoma. Cancer Genet Cytogenet 86:136-142.
27. Mohseny AB, Szuhai K, Romeo S, Buddingh EP, Briaire-de Bruijn I, De Jong D, van Pel M, Cleton-Jansen AM, Hogendoorn PC. 2009. Osteosarcoma originates from mesenchymal stem cells in consequence of aneuploidization and genomic loss of Cdkn2. J Pathol 219:294-305.
28. Natte R, van ER, Eilers P, Cleton-Jansen AM, Oosting J, Kouwenhove M, Kros JM, van DS. 2005. Multiplex ligation-dependent probe amplification for the detection of 1p and 19q chromosomal loss in oligodendroglial tumors. Brain Pathol 15: 192-197.
29. Nielsen GP, Burns KL, Rosenberg AE, Louis DN. 1998. CDKN2A gene deletions and loss of p16 expression occur in osteosarcomas that lack RB alterations. Am J Pathol 153:159- 163.
30. Niini T, Lopez-Guerrero JA, Ninomiya S, Guled M, Hattinger CM, Michelacci F, Bohling T, Llombart-Bosch A, Picci P, Serra M, Knuutila S. 2010. Frequent deletion of CDKN2A and recurrent coamplification of KIT, PDGFRA, and KDR in fibrosarcoma of bone-An array comparative genomic hybridization study. Genes Chromosomes Cancer 49:132-143.
31. Novak P, Jensen TJ, Garbe JC, Stampfer MR, Futscher BW. 2009. Stepwise DNA methylation changes are linked to escape from defined proliferation barriers and mammary epithelial cell immortalization. Cancer Res 69:5251-5258.
32. Oh JH, Kim HS, Kim HH, Kim WH, Lee SH. 2006. Aberrant methylation of p14ARF gene correlates with poor survival in osteosarcoma. Clin Orthop Relat Res 442:216-222.
33. Ottaviano L, Schaefer KL, Gajewski M, Huckenbeck W, Baldus S, Rogel U, Mackintosh C, de AE, Myklebost O, Kresse SH, Meza-Zepeda LA, Serra M, Cleton-Jansen AM, Hogendoorn PC, Buerger H, Aigner T, Gabbert HE, Poremba C. 2010. Molecular characterization of commonly used cell lines for bone tumor research: A trans-European EuroBoNet effort. Genes Chromosomes Cancer 49:40-51.
34. Ratsch SB, Gao Q, Srinivasan S, Wazer DE, Band V. 2001. Multiple genetic changes are required for efficient immortalization of different subtypes of normal human mammary epithelial cells. Radiat Res 155:143-150.
35. Raymond AK, Ayala AG, Knuutila S. 2002. Conventional osteosarcoma. In: Fletcher CDM, Unni KK, Mertens F, editors. World Health Organization Classification of Tumours. Pathology and Genetics of Tumours of Soft Tissue and Bone. Lyon: IARC Press, pp. 264-270.
36. Sandberg AA, Bridge JA. 2003. Updates on the cytogenetics and molecular genetics of bone and soft tissue tumors: Osteosarcoma and related tumors. Cancer Genet Cytogenet 145:1-30.
37. Savola S, Nardi F, Scotlandi K, Picci P, Knuutila S. 2007. Microdeletions in 9p21.3 induce false negative results in CDKN2A FISH analysis of Ewing sarcoma. Cytogenet Genome Res 119:21-26.
38. Smith E, Jones ME, Drew PA. 2009. Quantitation of DNA methylation by melt curve analysis. BMC Cancer 9:123.
39. Tolar J, Nauta AJ, Osborn MJ, Panoskaltsis MA, McElmurry RT, Bell S, Xia L, Zhou N, Riddle M, Schroeder TM, Westendorf JJ, McIvor RS, Hogendoorn PC, Szuhai K, Oseth L, Hirsch B, Yant SR, Kay MA, Peister A, Prockop DJ, Fibbe WE, Blazar BR. 2007. Sarcoma derived from cultured mesenchymal stem cells. Stem Cells 25:371-379.
40. Tsuchiya T, Sekine K, Hinohara S, Namiki T, Nobori T, Kaneko Y. 2000. Analysis of the p16INK4, p14ARF, p15, TP53, and MDM2 genes and their prognostic implications in osteosarcoma and Ewing sarcoma. Cancer Genet Cytogenet 120:91-98.
41. Usvasalo A, Ninomiya S, Raty R, Hollmen J, Saarinen-Pihkala UM, Elonen E, Knuutila S. 2010. Focal 9p instability in hematologic neoplasias revealed by comparative genomic hybridization and single-nucleotide polymorphism microarray analyses. Genes Chromosomes Cancer 49:309-318.
42. Van der Velden PA, Metzelaar-Blok JA, Bergman W, Monique H, Hurks H, Frants RR, Gruis NA, Jager MJ. 2001. Promoter hypermethylation: A common cause of reduced p16(INK4a) expression in uveal melanoma. Cancer Res 61:5303-5306.
43. van Eijk R, Eilers PH, Natte R, Cleton-Jansen AM, Morreau H, van Wezel T, Oosting J. 2010. MLPAinter for MLPA interpretation: An integrated approach for the analysis, visualization and data management of multiplex ligation-dependent probe amplification. BMC Bioinformatics 11:67-73.
44. Ventura RA, Martin-Subero JI, Jones M, McParland J, Gesk S, Mason DY, Siebert R. 2006. FISH analysis for the detection of lymphoma-associated chromosomal abnormalities in routine paraffin-embedded tissue. J Mol Diagn 8:141-151